Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats

Structural variants (SVs) and short tandem repeats (STRs) are important sources of genetic diversity but are not routinely analyzed in genetic studies because they are difficult to accurately identify and genotype. Because SVs and STRs range in size and type, it is necessary to apply multiple algori...

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Publicat a:Nat Commun
Autors principals: Jakubosky, David, Smith, Erin N., D’Antonio, Matteo, Jan Bonder, Marc, Young Greenwald, William W., D’Antonio-Chronowska, Agnieszka, Matsui, Hiroko, Stegle, Oliver, Montgomery, Stephen B., DeBoever, Christopher, Frazer, Kelly A.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2020
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7287045/
https://ncbi.nlm.nih.gov/pubmed/32522985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-020-16481-5
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